A homozygote mutation in RPA2 associated with bone marrow failure, immunodeficiency, and telomere biology disorder
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Telomere biology disorders (TBDs) are characterized by bone marrow failure (BMF) and dysfunctional telomeres. So far, inherited mutations in 18 genes have been identified in TBDs. Here, we describe a child presenting with early BMF, immunodeficiency, and sever... ...
